| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97098508del | CA16040789 | DPYD,DPYD-AS1 | c.2748del (p.Arg916SerfsTer9) n.64+2522del c.2532del (p.Arg844SerfsTer9) c.2637del (p.Arg879SerfsTer9) c.2253del (p.Arg751SerfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97098508C>A | CA341374717 | DPYD,DPYD-AS1 | c.2747G>T (p.Arg916Met) n.64+2522C>A c.2531G>T (p.Arg844Met) c.2636G>T (p.Arg879Met) c.2252G>T (p.Arg751Met) | |
| 1 | g.97098508C>G | CA341374718 | DPYD,DPYD-AS1 | c.2747G>C (p.Arg916Thr) n.64+2522C>G c.2531G>C (p.Arg844Thr) c.2636G>C (p.Arg879Thr) c.2252G>C (p.Arg751Thr) | |
| 1 | g.97098508C>T | CA341374719 | DPYD,DPYD-AS1 | c.2747G>A (p.Arg916Lys) n.64+2522C>T c.2531G>A (p.Arg844Lys) c.2636G>A (p.Arg879Lys) c.2252G>A (p.Arg751Lys) | |
| 1 | g.97098508_97098509delinsCT | CA1182717187 | DPYD,DPYD-AS1 | c.2746_2747delinsAG (p.Arg916=) n.64+2522_64+2523delinsCT c.2530_2531delinsAG (p.Arg844=) c.2635_2636delinsAG (p.Arg879=) c.2251_2252delinsAG (p.Arg751=) | |
| 1 | g.97098509T>A | CA341374720 | DPYD,DPYD-AS1 | c.2746A>T (p.Arg916Trp) n.64+2523T>A c.2530A>T (p.Arg844Trp) c.2635A>T (p.Arg879Trp) c.2251A>T (p.Arg751Trp) | |
| 1 | g.97098509T>C | CA341374721 | DPYD,DPYD-AS1 | c.2746A>G (p.Arg916Gly) n.64+2523T>C c.2530A>G (p.Arg844Gly) c.2635A>G (p.Arg879Gly) c.2251A>G (p.Arg751Gly) | |
| 1 | g.97098509T>G | CA419136958 | DPYD,DPYD-AS1 | c.2746A>C (p.Arg916=) n.64+2523T>G c.2530A>C (p.Arg844=) c.2635A>C (p.Arg879=) c.2251A>C (p.Arg751=) | |
| 1 | g.97098512del | CA962958 | DPYD,DPYD-AS1 | c.2746del (p.Arg916GlyfsTer9) n.64+2526del c.2530del (p.Arg844GlyfsTer9) c.2635del (p.Arg879GlyfsTer9) c.2251del (p.Arg751GlyfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97098510T>A | CA341374722 | DPYD,DPYD-AS1 | c.2745A>T (p.Lys915Asn) n.64+2524T>A c.2529A>T (p.Lys843Asn) c.2634A>T (p.Lys878Asn) c.2250A>T (p.Lys750Asn) | |
| 1 | g.97098510T>C | CA419136959 | DPYD,DPYD-AS1 | c.2745A>G (p.Lys915=) n.64+2524T>C c.2529A>G (p.Lys843=) c.2634A>G (p.Lys878=) c.2250A>G (p.Lys750=) | |
| 1 | g.97098510T>G | CA341374723 | DPYD,DPYD-AS1 | c.2745A>C (p.Lys915Asn) n.64+2524T>G c.2529A>C (p.Lys843Asn) c.2634A>C (p.Lys878Asn) c.2250A>C (p.Lys750Asn) | |
| 1 | g.97098511T>A | CA341374725 | DPYD,DPYD-AS1 | c.2744A>T (p.Lys915Ile) n.64+2525T>A c.2528A>T (p.Lys843Ile) c.2633A>T (p.Lys878Ile) c.2249A>T (p.Lys750Ile) | |
| 1 | g.97098511T>C | CA341374726 | DPYD,DPYD-AS1 | c.2744A>G (p.Lys915Arg) n.64+2525T>C c.2528A>G (p.Lys843Arg) c.2633A>G (p.Lys878Arg) c.2249A>G (p.Lys750Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97098511T>G | CA341374724 | DPYD,DPYD-AS1 | c.2744A>C (p.Lys915Thr) n.64+2525T>G c.2528A>C (p.Lys843Thr) c.2633A>C (p.Lys878Thr) c.2249A>C (p.Lys750Thr) | |
| 1 | g.97098511T= | CA1182717188 | DPYD,DPYD-AS1 | c.2744A= (p.Lys915=) n.64+2525T= c.2528A= (p.Lys843=) c.2633A= (p.Lys878=) c.2249A= (p.Lys750=) | |
| 1 | g.97098512T>A | CA341374727 | DPYD,DPYD-AS1 | c.2743A>T (p.Lys915Ter) n.64+2526T>A c.2527A>T (p.Lys843Ter) c.2632A>T (p.Lys878Ter) c.2248A>T (p.Lys750Ter) | |
| 1 | g.97098512T>C | CA341374728 | DPYD,DPYD-AS1 | c.2743A>G (p.Lys915Glu) n.64+2526T>C c.2527A>G (p.Lys843Glu) c.2632A>G (p.Lys878Glu) c.2248A>G (p.Lys750Glu) | dbSNP |
| 1 | g.97098512T>G | CA341374729 | DPYD,DPYD-AS1 | c.2743A>C (p.Lys915Gln) n.64+2526T>G c.2527A>C (p.Lys843Gln) c.2632A>C (p.Lys878Gln) c.2248A>C (p.Lys750Gln) | |
| 1 | g.97098513G>A | CA419136960 | DPYD,DPYD-AS1 | c.2742C>T (p.Pro914=) n.64+2527G>A c.2526C>T (p.Pro842=) c.2631C>T (p.Pro877=) c.2247C>T (p.Pro749=) | |
| 1 | g.97098513G>C | CA419136961 | DPYD,DPYD-AS1 | c.2742C>G (p.Pro914=) n.64+2527G>C c.2526C>G (p.Pro842=) c.2631C>G (p.Pro877=) c.2247C>G (p.Pro749=) | gnomAD v4 |
| 1 | g.97098513G>T | CA419136962 | DPYD,DPYD-AS1 | c.2742C>A (p.Pro914=) n.64+2527G>T c.2526C>A (p.Pro842=) c.2631C>A (p.Pro877=) c.2247C>A (p.Pro749=) | |
| 1 | g.97098514G>A | CA341374730 | DPYD,DPYD-AS1 | c.2741C>T (p.Pro914Leu) n.64+2528G>A c.2525C>T (p.Pro842Leu) c.2630C>T (p.Pro877Leu) c.2246C>T (p.Pro749Leu) | |
| 1 | g.97098514G>C | CA341374731 | DPYD,DPYD-AS1 | c.2741C>G (p.Pro914Arg) n.64+2528G>C c.2525C>G (p.Pro842Arg) c.2630C>G (p.Pro877Arg) c.2246C>G (p.Pro749Arg) | |
| 1 | g.97098514G>T | CA341374732 | DPYD,DPYD-AS1 | c.2741C>A (p.Pro914His) n.64+2528G>T c.2525C>A (p.Pro842His) c.2630C>A (p.Pro877His) c.2246C>A (p.Pro749His) | |
| 1 | g.97098515G>A | CA341374735 | DPYD,DPYD-AS1 | c.2740C>T (p.Pro914Ser) n.64+2529G>A c.2524C>T (p.Pro842Ser) c.2629C>T (p.Pro877Ser) c.2245C>T (p.Pro749Ser) | |
| 1 | g.97098515G>C | CA341374733 | DPYD,DPYD-AS1 | c.2740C>G (p.Pro914Ala) n.64+2529G>C c.2524C>G (p.Pro842Ala) c.2629C>G (p.Pro877Ala) c.2245C>G (p.Pro749Ala) | |
| 1 | g.97098515G>T | CA341374734 | DPYD,DPYD-AS1 | c.2740C>A (p.Pro914Thr) n.64+2529G>T c.2524C>A (p.Pro842Thr) c.2629C>A (p.Pro877Thr) c.2245C>A (p.Pro749Thr) | |
| 1 | g.97098516G>A | CA27460746 | DPYD,DPYD-AS1 | c.2739C>T (p.Ile913=) n.64+2530G>A c.2523C>T (p.Ile841=) c.2628C>T (p.Ile876=) c.2244C>T (p.Ile748=) | dbSNP gnomAD v2 |
| 1 | g.97098516G>C | CA341374736 | DPYD,DPYD-AS1 | c.2739C>G (p.Ile913Met) n.64+2530G>C c.2523C>G (p.Ile841Met) c.2628C>G (p.Ile876Met) c.2244C>G (p.Ile748Met) | gnomAD v4 |
| 1 | g.97098516G= | CA1182717189 | DPYD,DPYD-AS1 | c.2739C= (p.Ile913=) n.64+2530G= c.2523C= (p.Ile841=) c.2628C= (p.Ile876=) c.2244C= (p.Ile748=) | |
| 1 | g.97098516G>T | CA419136963 | DPYD,DPYD-AS1 | c.2739C>A (p.Ile913=) n.64+2530G>T c.2523C>A (p.Ile841=) c.2628C>A (p.Ile876=) c.2244C>A (p.Ile748=) | |
| 1 | g.97098517A>C | CA341374737 | DPYD,DPYD-AS1 | c.2738T>G (p.Ile913Ser) n.64+2531A>C c.2522T>G (p.Ile841Ser) c.2627T>G (p.Ile876Ser) c.2243T>G (p.Ile748Ser) | |
| 1 | g.97098517A>G | CA341374738 | DPYD,DPYD-AS1 | c.2738T>C (p.Ile913Thr) n.64+2531A>G c.2522T>C (p.Ile841Thr) c.2627T>C (p.Ile876Thr) c.2243T>C (p.Ile748Thr) | |
| 1 | g.97098517A>T | CA341374739 | DPYD,DPYD-AS1 | c.2738T>A (p.Ile913Asn) n.64+2531A>T c.2522T>A (p.Ile841Asn) c.2627T>A (p.Ile876Asn) c.2243T>A (p.Ile748Asn) | |
| 1 | g.97098518T>A | CA341374742 | DPYD,DPYD-AS1 | c.2737A>T (p.Ile913Phe) n.64+2532T>A c.2521A>T (p.Ile841Phe) c.2626A>T (p.Ile876Phe) c.2242A>T (p.Ile748Phe) | |
| 1 | g.97098518T>C | CA341374740 | DPYD,DPYD-AS1 | c.2737A>G (p.Ile913Val) n.64+2532T>C c.2521A>G (p.Ile841Val) c.2626A>G (p.Ile876Val) c.2242A>G (p.Ile748Val) | |
| 1 | g.97098518T>G | CA341374741 | DPYD,DPYD-AS1 | c.2737A>C (p.Ile913Leu) n.64+2532T>G c.2521A>C (p.Ile841Leu) c.2626A>C (p.Ile876Leu) c.2242A>C (p.Ile748Leu) | |
| 1 | g.97098519A>C | CA341374743 | DPYD,DPYD-AS1 | c.2736T>G (p.Phe912Leu) n.64+2533A>C c.2520T>G (p.Phe840Leu) c.2625T>G (p.Phe875Leu) c.2241T>G (p.Phe747Leu) | |
| 1 | g.97098519A>G | CA419136964 | DPYD,DPYD-AS1 | c.2736T>C (p.Phe912=) n.64+2533A>G c.2520T>C (p.Phe840=) c.2625T>C (p.Phe875=) c.2241T>C (p.Phe747=) | |
| 1 | g.97098519A>T | CA341374744 | DPYD,DPYD-AS1 | c.2736T>A (p.Phe912Leu) n.64+2533A>T c.2520T>A (p.Phe840Leu) c.2625T>A (p.Phe875Leu) c.2241T>A (p.Phe747Leu) | |
| 1 | g.97098520A>C | CA341374745 | DPYD,DPYD-AS1 | c.2735T>G (p.Phe912Cys) n.64+2534A>C c.2519T>G (p.Phe840Cys) c.2624T>G (p.Phe875Cys) c.2240T>G (p.Phe747Cys) | |
| 1 | g.97098520A>G | CA341374746 | DPYD,DPYD-AS1 | c.2735T>C (p.Phe912Ser) n.64+2534A>G c.2519T>C (p.Phe840Ser) c.2624T>C (p.Phe875Ser) c.2240T>C (p.Phe747Ser) | |
| 1 | g.97098520A>T | CA341374747 | DPYD,DPYD-AS1 | c.2735T>A (p.Phe912Tyr) n.64+2534A>T c.2519T>A (p.Phe840Tyr) c.2624T>A (p.Phe875Tyr) c.2240T>A (p.Phe747Tyr) | |
| 1 | g.97098521A>C | CA341374748 | DPYD,DPYD-AS1 | c.2734T>G (p.Phe912Val) n.64+2535A>C c.2518T>G (p.Phe840Val) c.2623T>G (p.Phe875Val) c.2239T>G (p.Phe747Val) | |
| 1 | g.97098521A>G | CA341374749 | DPYD,DPYD-AS1 | c.2734T>C (p.Phe912Leu) n.64+2535A>G c.2518T>C (p.Phe840Leu) c.2623T>C (p.Phe875Leu) c.2239T>C (p.Phe747Leu) | |
| 1 | g.97098521A>T | CA341374750 | DPYD,DPYD-AS1 | c.2734T>A (p.Phe912Ile) n.64+2535A>T c.2518T>A (p.Phe840Ile) c.2623T>A (p.Phe875Ile) c.2239T>A (p.Phe747Ile) | |
| 1 | g.97098521_97098523delinsAAC | CA1182717190 | DPYD,DPYD-AS1 | c.2732_2734delinsGTT (p.Cys911=) n.64+2535_64+2537delinsAAC c.2516_2518delinsGTT (p.Cys839=) c.2621_2623delinsGTT (p.Cys874=) c.2237_2239delinsGTT (p.Cys746=) | |
| 1 | g.97098522A>C | CA341374751 | DPYD,DPYD-AS1 | c.2733T>G (p.Cys911Trp) n.64+2536A>C c.2517T>G (p.Cys839Trp) c.2622T>G (p.Cys874Trp) c.2238T>G (p.Cys746Trp) | |
| 1 | g.97098522A>G | CA419136965 | DPYD,DPYD-AS1 | c.2733T>C (p.Cys911=) n.64+2536A>G c.2517T>C (p.Cys839=) c.2622T>C (p.Cys874=) c.2238T>C (p.Cys746=) | gnomAD v4 |